ALG14
Sign in to saveAlso known as CMS15, ALG14, UDP-N-acetylglucosaminyltransferase subunit, ALG14 UDP-N-acetylglucosaminyltransferase subunit, IDDEBF, MEPCA
UDP-N-acetylglucosamine transferase subunit ALG14 homolog is a protein that in humans is encoded by the ALG14 gene.
Gene data
ALG14- Name
- ALG14 UDP-N-acetylglucosaminyltransferase subunit
- Type
- protein-coding
- Aliases
- CMS15, IDDEBF, MEPCA
This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015].
via MyGene.info
Gene · Ensembl
ALG14 UDP-N-acetylglucosaminyltransferase subunit
- Symbol
- ALG14
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:94,974,405-95,072,983
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 49751
- genomic end
- 95538501
- exact match
- identifiers.org/ncbigene/199857
- genomic start
- 94974405
- cytogenetic location
- 1p21.3
Sources (4)
via Wikidata · CC0
~1 min read
Article
4 sectionsContents
- See also
- References
- External links
- Further reading
UDP-N-acetylglucosamine transferase subunit ALG14 homolog is a protein that in humans is encoded by the ALG14 gene.
Asparagine (N)-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 (this protein) constitute the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation.